DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.

The Journal of Clinical Endocrinology and Metabolism
Silke PeetersWES-BESPEED Study Group

Abstract

In a significant proportion of children born small for gestational age (SGA) with failure of catch-up growth, the etiology of short stature remains unclear after routine diagnostic workup. We wanted to investigate if extensive analysis of the (epi)genome can unravel the cause of growth failure in a significant portion of these children. Twenty SGA children treated with GH because of short stature were selected from the BELGROW database of the Belgian Society for Pediatric Endocrinology and Diabetology for exome sequencing, single-nucleotide polymorphism (SNP) array and genome-wide methylation analysis to identify the (epi)genetic cause. First-year response to GH was compared with the response of SGA patients in the KIGS database. We identified (likely) pathogenic variants in 4 children (from 3 families) using exome sequencing and found pathogenic copy number variants in 2 probands using SNP array. In a child harboring a NSD1-containing microduplication, we identified a DNA methylation signature that is opposite to the genome-wide DNA methylation signature of Sotos syndrome. Moreover, we observed multilocus imprinting disturbances in 2 children in whom no other genomic alteration could be identified. Five of 6 children with a ge...Continue Reading

References

Nov 1, 1995·Pediatric Research·J Karlberg, K Albertsson-Wikland
Aug 26, 1998·Hormone Research·K Albertsson-WiklandJ Karlberg
Sep 8, 1998·Hormone Research·K Albertsson-WiklandJ Karlberg
Aug 7, 2009·Human Molecular Genetics·Elmar W TobiBastiaan T Heijmans
Nov 19, 2009·Annals of Human Biology·M RoelantsK Hoppenbrouwers
Jan 26, 2010·The Journal of Clinical Endocrinology and Metabolism·Michael B RankeUNKNOWN KIGS International Board
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Oct 12, 2010·Epigenetics : Official Journal of the DNA Methylation Society·Elmar W TobiP Eline Slagboom
Jan 7, 2011·BMC Bioinformatics·Geert VandeweyerR Frank Kooy
Jan 12, 2011·Nature Biotechnology·James T RobinsonJill P Mesirov
Apr 17, 2012·Molecular Biology and Evolution·Feng-Chi ChenAndrew Ying-Fei Chang
Jun 26, 2012·Nucleic Acids Research·Andreas UntergasserSteven G Rozen
Jun 22, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Robert C GreenUNKNOWN American College of Medical Genetics and Genomics
Feb 6, 2014·Genome Biology·Andrew E Jaffe, Rafael A Irizarry
Feb 25, 2014·Biochimica Et Biophysica Acta·Nathan R Rose, Robert J Klose
Apr 9, 2014·Proceedings of the National Academy of Sciences of the United States of America·Thomas E Keller, Soojin V Yi
Jun 25, 2014·Nature Reviews. Genetics·Jo Peters
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Dec 23, 2015·Nature Communications·S ChoufaniR Weksberg
Jul 22, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Aaron M WengerGill Bejerano
Nov 14, 2017·Hormone Research in Pædiatrics·Thais K HommaAlexander A L Jorge
Jan 18, 2018·The Journal of Clinical Endocrinology and Metabolism·Susanne E StalmanRaoul C Hennekam
Jun 26, 2018·Clinical Genetics·Jacek PilchRafał Płoski
Aug 28, 2018·Clinical Case Reports·Diana S BrightmanAndrew Dauber
Jan 3, 2019·The Journal of Clinical Endocrinology and Metabolism·Bruna L FreireAlexander A L Jorge
Oct 22, 2019·The Journal of Pediatrics·Thais Kataoka HommaAlexander Augusto de Lima Jorge

❮ Previous
Next ❯

Citations

Oct 6, 2021·Nature Reviews. Genetics·Sanne M Janssen, Matthew C Lorincz

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.